trans-2-hexenoylglycine to betaine

Numerator Metabolite

Structure of trans-2-hexenoylglycine
Metabolite Accession: GCST90200160
Name: trans-2-hexenoylglycine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: AAPHATPOQGNLOZ

Denominator Metabolite

Structure of betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.402
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
16.637
Reference Allele:
C
-log10(P):
-141.444
MAF:
0.324
Beta (Num):
0.246
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.156
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Choline and betaine metabolism

Ratio Explanation:

An elevated ratio may reflect a shift from fatty acid oxidation (ACADL) to urea cycle activity (CPS1) for nitrogen disposal under specific metabolic stress.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in CPS1 could alter its function, impacting nitrogen metabolism. This, combined with changes in fatty acid oxidation indicated by trans-2-hexenoylglycine levels, may contribute to the risk of cholelithiasis and renal dysfunction through complex metabolic and inflammatory pathways.

Phenotype Driver:

Gene-centric:CPS1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data